Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1383180
rs1383180
1 4 5783715 missense variant G/A;T snv 0.35; 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs755273705
rs755273705
EVC
1 4 5729349 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2018 2018